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Fetal screening

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https://www.readbyqxmd.com/read/29792180/screening-for-congenital-fetal-anomalies-in-low-risk-pregnancy-the-kenyatta-national-hospital-experience
#1
Callen Kwamboka Onyambu, Norah Mukiri Tharamba
BACKGROUND: Congenital malformations contribute significantly to the disease burden among children globally. A study conducted in Kenya on understanding the burden of surgical congenital anomalies, highlights the need for Kenyan health systems to go beyond the medical dimensions of illness. This could be achieved by linking knowledge of the severe congenital anomalies (CAs) and their impact of varying disability to the delivery of local health services and public health program planning...
May 23, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29788402/internationally-adopted-children-not-only-infectious-diseases
#2
Camilla Totaro, Barbara Bortone, Pasqua Putignano, Sara Sollai, Luisa Galli, Maurizio de Martino, Elena Chiappini
Information on prevalence of special needs in internationally adopted children (IAC) is incomplete. We reviewed data from 422 IAC screened at a single Centre in Italy in 2015-16. Prevalence of special needs reached 17.1% (n = 72). Among these children, the most frequent conditions were fetal alcohol spectrum disorders (FASD; n = 30; 7.1%), cleft lip palate (n = 8; 1.9%) and other congenital malformations (n = 20; 4.7%). Worrisomely, 25 out of 52 (48.1%) Russian children presented with FASD.
January 1, 2018: Journal of Travel Medicine
https://www.readbyqxmd.com/read/29786509/-targeted-screening-for-pre-eclampsia-in-the-first-trimester-of-pregnancy-at-toulouse-university-hospital
#3
A Genoux, P Guerby, M Morin, B Perret, C Vayssière, S M Hamdi
GOALS: Preeclampsia (PE) is a leading cause of maternal and neonatal morbidity and mortality. Early treatment by aspirin has been shown to significantly reduce PE risk before 37weeks supporting the implementation of first-trimester screening. SUBJECTS AND METHODS: A targeted screening was recently implemented at Toulouse University Hospital for women in their first pregnancy or those with personal or familial history of PE. It uses Fetal Medicine Foundation (FMF) algorithm that combines maternal characteristics, clinical, biophysical and biochemical (PAPP-A, Pregnancy Associated Plasma Protein-A, and PlGF, Placental Growth Factor) data...
May 18, 2018: Annales de Cardiologie et D'angéiologie
https://www.readbyqxmd.com/read/29781076/first-trimester-combined-screening-for-fetal-aneuploidies-enhanced-with-additional-ultrasound-markers-an-8-year-prospective-study
#4
Dragos Nemescu, Adina Bratie, Alexandra Mihaila, Dan Navolan, Adina Tanase
OBJECTIVES: To describe our screening population and audit of the performance of first-trimester screening for Down syndrome, based on a combined test, enhanced with additional ultrasound markers, over the whole period of the study. MATERIAL AND METHODS: We performed a prospective study from 2009 to 2016, which included 1358 singleton fetuses with a crown-rump length of 45-84 mm. The risk of aneuploidy was calculated using nuchal translucency, fetal heart rate (FHR), and additional markers, such as nasal bone (NB), tricuspid flow (TF) and ductus venosus (DV), combined with maternal serum free β-human chorionic gonadotropin (fβ-hCG) and pregnancy-associated plasma protein-A (PAPP-A)...
2018: Ginekologia Polska
https://www.readbyqxmd.com/read/29779040/association-between-unexplained-thickened-nuchal-translucency-and-adverse-pregnancy-outcomes
#5
Santee Tiyatha, Sirinart Sirilert, Ratanaporn Sekararithi, Theera Tongsong
OBJECTIVE: To determine the association between unexplained increased nuchal translucency (INT) and adverse pregnancy outcomes. PATIENTS AND METHODS: The prospective database of our fetal down screening project was accessed to retrieve the records with NT measurement and complete follow-up. Pregnancies with pre-existing medical diseases, fetal chromosomal or structural abnormalities were excluded. The selected pregnancies were classified into the INT groups (> 95th percentile), the normal (< 95th percentile) group...
May 19, 2018: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/29766818/cell-free-fetal-dna-a-novel-biomarker-for-early-prediction-of-pre-eclampsia-and-other-obstetric-complications
#6
Naina Kumar, Amit Kant Singh
Hypertensive disorder of pregnancy, especially Pre-eclampsia is one of the major causes of increased maternal and perinatal morbidity and mortality all over the world. Early prediction of pre-eclampsia is the need of modern obstetrics, as this can timely prevent the progress of disease as well as related fetal and maternal morbidity and mortality. In addition to the screening of fetal aneuploidies, Rhesus-D status, fetal sex, single gene disorders, the cell-free fetal Deoxyribonucleic acid (DNA) quantification has emerged out as a promising biomarker for prediction of pre-eclampsia...
May 16, 2018: Current Hypertension Reviews
https://www.readbyqxmd.com/read/29763964/incidental-fetal-ultrasound-findings-interpretation-and-management
#7
Rebekah Kaplan, Sharon Adams
Ultrasonography is a common component of prenatal care worldwide and is often used in early pregnancy to determine gestational age, number of fetuses, fetal cardiac activity, and placental location. Patients and their families may also consider ultrasonography a social event, as it provides confirmation and reassurance of a normal pregnancy. Ultrasound screening is typically scheduled in the second trimester to visualize fetal anatomy and confirm gestational age. Most ultrasound examinations are reassuring, but some incidentally identify structural anomalies and soft markers for aneuploidy, making it necessary for health care providers to correctly interpret these findings...
May 15, 2018: Journal of Midwifery & Women's Health
https://www.readbyqxmd.com/read/29761581/congenital-zika-syndrome-pitfalls-in-the-placental-barrier
#8
REVIEW
Nia Robinson, Evangelina E Mayorquin Galvan, Isidro G Zavala Trujillo, Maria G Zavala-Cerna
Much progress with respect to congenital Zika virus (ZIKV) pathogenesis has been achieved after the 2015 outbreak in Brazil. It is now accepted that ZIKV is vertically transmitted, infects cells of the developing central nervous system and the placenta, yet it is unclear to what extent placental affection contributes to the development of congenital ZIKV. The association between fulminant villitis and severe fetal involvement emerges as a possibility. ZIKV is unique among the Flaviviruses in its ability to be sexually transmitted, possibly responsible for its teratogenicity...
May 15, 2018: Reviews in Medical Virology
https://www.readbyqxmd.com/read/29760218/validation-of-an-expanded-carrier-screen-that-optimizes-sensitivity-via-full-exon-sequencing-and-panel-wide-copy-number-variant-identification
#9
Gregory J Hogan, Valentina S Vysotskaia, Kyle A Beauchamp, Stefanie Seisenberger, Peter V Grauman, Kevin R Haas, Sun Hae Hong, Diana Jeon, Shera Kash, Henry H Lai, Laura M Melroy, Mark R Theilmann, Clement S Chu, Kevin Iori, Jared R Maguire, Eric A Evans, Imran S Haque, Rebecca Mar-Heyming, Hyunseok P Kang, Dale Muzzey
BACKGROUND: By identifying pathogenic variants across hundreds of genes, expanded carrier screening (ECS) enables prospective parents to assess the risk of transmitting an autosomal recessive or X-linked condition. Detection of at-risk couples depends on the number of conditions tested, the prevalence of the respective diseases, and the screen's analytical sensitivity for identifying disease-causing variants. Disease-level analytical sensitivity is often <100% in ECS tests because copy number variants (CNVs) are typically not interrogated because of their technical complexity...
May 14, 2018: Clinical Chemistry
https://www.readbyqxmd.com/read/29758955/fetal-heart-rate-monitoring-device-using-condenser-microphone-sensor-validation-and-comparison-to-standard-devices
#10
Husna Azyan Binti Ahmad, Ismail M El-Badawy, Om Prakash Singh, Rozana Binti Hisham, M B Malarvili
BACKGROUND: Fetal heart rate (FHR) monitoring device is highly demanded to assess the fetus health condition in home environments. Conventional standard devices such as ultrasonography and cardiotocography are expensive, bulky and uncomfortable and consequently not suitable for long-term monitoring. Herein, we report a device that can be used to measure fetal heart rate in clinical and home environments. METHODS: The proposed device measures and displays the FHR on a screen liquid crystal display (LCD)...
April 27, 2018: Technology and Health Care: Official Journal of the European Society for Engineering and Medicine
https://www.readbyqxmd.com/read/29757587/development-and-evaluation-of-a-novel-elisa-for-detection-of-antibodies-against-htlv-i-using-chimeric-peptides
#11
Parvin Mosadeghi, Hafez Heydari-Zarnagh
We aimed to develope a peptide-based indirect ELISA to detect antibodies against Human T-lymphotropic virus type I (HTLV-I). Two chimeric peptides (CP-1 and CP-2) were designed using linear immunodominant epitopes of gp-46-I, and gp21-I proteins, according to the sequence from Uniprot database. These peptides were studied initially in the ELISA using infected sera. The most promising peptideCP-1, was used to develop a peptide ELISA for detection of HTLV-I infected sera. The optimal conditions for CP-1ELISA were: the optimum coating buffer was 100mM NaHCO3, pH 9...
April 2018: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/29754019/threatened-miscarriage-and-depressive-and-anxiety-symptoms-among-women-and-partners-in-early-pregnancy
#12
Cindy Shiqi Zhu, Thiam Chye Tan, Helen Yu Chen, Rahul Malhotra, John Carson Allen, Truls Østbye
BACKGROUND: Antenatal depression has been associated with poor maternal and fetal outcomes, and threatened miscarriage is often seen clinically to impact adversely on maternal wellbeing, notwithstanding the limited research evidence. Our study aims to examine the link between threatened miscarriage and antenatal depression and anxiety in an Asian obstetric population. METHODS: We recruited 121 women and 68 partners facing threatened miscarriage, and 241 women and 180 partners experiencing uncomplicated pregnancies from a tertiary maternity hospital in Singapore...
April 12, 2018: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29753919/epidemiology-of-orofacial-clefts-in-a-danish-county-over-35-years-before-and-after-implementation-of-a-prenatal-screening-programme-for-congenital-anomalies
#13
Eva Berenth Paaske, Ester Garne
In 2004 the Danish National Board of Health changed its screening recommendations. Since 2005 a first trimester screening for Down syndrome and a prenatal ultrasound screening for congenital anomalies in the second trimester of pregnancy has been offered to all pregnant women. The aim of this study was to describe the prevalence of cleft lip with or without cleft palate and cleft palate in a Danish area and to describe associated anomalies and the development in prenatal diagnosis over time. The study was based on data from the EUROCAT Registry for Funen County...
May 10, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29753307/antenatal-risk-factors-associated-with-neonatal-morbidity-in-large-for-gestational-age-infants-an-international-prospective-cohort-study
#14
Matias C Vieira, Lesley Me McCowan, Robyn A North, Jenny E Myers, James J Walker, Philip N Baker, Gustaaf A Dekker, Louise C Kenny, Lucilla Poston, Dharmintra Pasupathy
INTRODUCTION: Large for gestational age (LGA) infants are associated with increased risk of neonatal morbidity and mortality, however most of them will not have adverse outcomes. Our aim was to identify antenatal clinical factors associated with neonatal morbidity in LGA infants. MATERIAL AND METHODS: Nulliparous women from the Screening for Pregnancy Endpoints (SCOPE) study were included. We compared maternal and fetal factors between LGA infants (birthweight >90th customized centile) with and without neonatal morbidity, defined as admission to neonatal intensive care unit or severe neonatal morbidity...
May 12, 2018: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/29752389/pregnancy-in-women-with-a-fontan-circulation-a-systematic-review-of-the-literature
#15
Alvaro Garcia Ropero, Shankar Baskar, Jolien W Roos Hesselink, Andrea Girnius, Dominica Zentner, Lorna Swan, Magalie Ladouceur, Nicole Brown, Gruschen R Veldtman
BACKGROUND: The Fontan operation has provided life-saving palliation and adult survival for individuals born with single ventricle physiology. Many now seek advice about safe pregnancy. Little data are, however, available, consisting mainly of anecdotal experience and small series. This article seeks to review the published literature and identify lessons learnt from this collective experience. METHODS AND RESULTS: We conducted a systematic review to evaluate maternal and fetal outcomes of pregnancy in women with a Fontan circulation...
May 2018: Circulation. Cardiovascular Quality and Outcomes
https://www.readbyqxmd.com/read/29749239/a-novel-fetal-sequence-patogenesis-resulting-in-oral-meningoencephalocele
#16
M Gabor, P Papcun, Jr M Krizko, Z Cierna, V Ferianec
OBJECTIVES: To analyze a rare triad of intracranial fetal pathologies and clinical study of the novel defined sequence pathogenesis based on prenatal and postmortem findings. METHODS: Complex multidisciplinary clinical analysis and review of up-to-date literature. RESULTS: In an 18-gestational-week fetus the screening ultrasound scan resembled the semilobar type of holoprosencephaly and oral tumor. After the indicated termination of pregnancy, the histopathology results confirmed another pathologies - oral meningoencephalocele, teratoma of the sellar area and large arachnoidal cyst of the anterior cerebral fossa...
2018: Bratislavské Lekárske Listy
https://www.readbyqxmd.com/read/29747890/detection-and-prevention-of-perinatal-infection-cytomegalovirus-and-zika-virus
#17
REVIEW
Amber M Wood, Brenna L Hughes
Congenital cytomegalovirus is the most common viral congenital infection, and affects up to 2% of neonates. Significant sequelae may develop after congenital cytomegalovirus, including hearing loss, cognitive defects, seizures, and death. Zika virus is an emerging virus with perinatal implications; a congenital Zika virus syndrome has been identified, and includes findings such as microcephaly, fetal nervous system abnormalities, and neurologic sequelae after birth. Screening, diagnosis, prevention, and treatment of these perinatal infections are reviewed in this article...
June 2018: Clinics in Perinatology
https://www.readbyqxmd.com/read/29745012/clinical-results-after-the-implementation-of-cell-free-fetal-dna-detection-in-maternal-plasma
#18
Cristina Martínez-Payo, Isabel Bada-Bosch, María Martínez-Moya, Tirso Pérez-Medina
AIM: Detection of cell-free fetal DNA in maternal blood is a type of noninvasive prenatal diagnosis test (NIPT), which has already been known for some time but has not yet been introduced in most of public hospitals in Spain. How the implementation of cell-free fetal DNA (cffDNA) in a contingent protocol has influenced the aneuploidy screening in our hospital is described. METHODS: Two cohorts of patients with positive combined screening were compared: the first one (years 2012-2013, 5747 patients) from a period of time in which the protocol valid until March 2016 - that included the use of invasive procedures - was applied; and the second one in which the current protocol - that included NIPT versus invasive procedures - was applied (first 7 months after protocol implementation, 898 patients)...
May 10, 2018: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29743807/self-medication-practice-and-associated-factors-among-pregnant-women-in-addis-ababa-ethiopia
#19
Kidanemariam G/Michael Beyene, Solomon Worku Beza
Background: Self-medication which is the act of obtaining and using one or more medicines without medical supervision is a common practice among pregnant women. Unless proper caution is taken, it may result in maternal and fetal adverse outcomes. In Ethiopia, information on self-medication practice during pregnancy is scanty. Hence, this study aimed to assess self-medication practice and associated factors among pregnant women in government health centers in Addis Ababa. Methods: An institution-based mixed study design using a sequential explanatory approach was employed among 617 pregnant women and nine key informants in Addis Ababa from May 8, 2017, to June 30, 2017...
2018: Tropical Medicine and Health
https://www.readbyqxmd.com/read/29741247/prenatal-and-preimplantation-diagnosis-of-hemoglobinopathies
#20
REVIEW
C Vrettou, G Kakourou, T Mamas, J Traeger-Synodinos
The hemoglobinopathies, as a group, are one of the most common serious monogenic diseases in the world. An accepted and widely adopted approach to reduce the number of new cases involves carrier-screening programs, with the option of prenatal diagnosis (PND) or preimplantation diagnosis (preimplantation genetic testing for monogenic disease, PGT-M) for carrier couples. The aim of PND is to provide an accurate result as early in pregnancy as possible, which necessitates prior identification of the parental disease-causing mutations, as well as safe and timely biopsy of fetal material...
May 2018: International Journal of Laboratory Hematology
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